A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607314



Internal ID6647555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157276370..157280307hg38UCSC Ensembl
Innerchr5:157276397..157280280hg38UCSC Ensembl
Outerchr5:157276343..157280334hg38UCSC Ensembl
chr5:156703380..156707317hg19UCSC Ensembl
Innerchr5:156703407..156707290hg19UCSC Ensembl
Outerchr5:156703353..156707344hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg383938
hg193938
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1149e214
Supporting Variantsessv12111494
SamplesHG03603
Known GenesCYFIP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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